Evidence map›Paper›PMID 39606382›Full record

ArticlemedRxiv : the preprint server for health sciences2024

Variants in

Uma M Neelathi, Ehsan Ullah, Aman George, Mara I Maftei, Elangovan Boobalan, Daniel Sanchez-Mendoza, Chloe Adams, David McGaughey, Yuri V Sergeev, Ranya Ai Rawi and 13 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

23 authors.

Uma M NeelathiOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892.ORCID 0000-0003-4870-4747
Ehsan UllahOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892.ORCID 0000-0003-0107-6608
Aman GeorgeOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892.ORCID 0000-0003-4315-7617
Mara I MafteiUCL Institute of Ophthalmology, University College, London, London, UK.ORCID 0009-0000-4370-759X
Elangovan BoobalanOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892.ORCID 0000-0001-7262-5171
Daniel Sanchez-MendozaOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892.ORCID 0009-0005-1941-3205
Chloe AdamsOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892.ORCID 0009-0007-0785-5641
David McGaugheyOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892.ORCID 0000-0002-9224-2888
Yuri V SergeevOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892.ORCID 0000-0002-7204-6572
Ranya Ai RawiOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892.
Amelia NaikOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892.ORCID 0000-0001-7764-3619
Chelsea BenderOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892.
Irene H MaumeneeHarkness Eye Institute, Columbia University, 622 W 168th St., New York, NY 10032.
Michel MichaelidesUCL Institute of Ophthalmology, University College, London, London, UK.ORCID 0000-0002-1552-7046
Tun Giap TanTorbay Hospital, Torbay and South Devon NHS Foundation Trust, Devon, UK.ORCID 0000-0002-7033-9662
Siying LinUCL Institute of Ophthalmology, University College, London, London, UK.ORCID 0000-0003-1122-8396
Rafael VillasmilFlow Cytometry Core, National Eye Institute, Bethesda, MD 20892.ORCID 0000-0002-8956-2979
Delphine BlainOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892.ORCID 0000-0002-9275-5827
Robert B HufnagelOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892.ORCID 0000-0003-3015-3545
Gavin ArnoUCL Institute of Ophthalmology, University College, London, London, UK.ORCID 0000-0002-6165-7888
Rodrigo M YoungUCL Institute of Ophthalmology, University College, London, London, UK.ORCID 0000-0001-5765-197X
Bin GuanOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892.ORCID 0009-0000-0823-4029
Brian P BrooksOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892.ORCID 0000-0002-1926-7551

Funding

Statistical Methods for Gene Regulatory Analysis From Single Cell Genomics DataP20GM139769 · NIGMS · CLEMSON UNIVERSITY · PI ANHOLT, ROBERT R. H, ARNO, GAVIN · 2021 to 2025
$10.8M
NIGMS NIH HHS P20 GM139769Wellcome Trust
6 · The paper itself

Abstract

Colobomatous microphthalmia is a potentially blinding congenital ocular malformation that can present either in isolation or together with other syndromic features. Despite a strong genetic component to disease, many cases lack a molecular diagnosis. We describe a novel autosomal dominant oculo-vertebral-renal (OVR) syndrome in six independent families characterized by colobomatous microphthalmia, missing vertebrae and congenital kidney abnormalities. Genome sequencing identified six rare variants in the orphan nuclear receptor gene

Identifiers

PMID39606382
PMCPMC11601759

What Socratic holds

Textmetadata
LicenceCC0
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.